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Svorenova, T.* ; Romito, L.M.* ; Kaymak, A.* ; Mulroy, E.* ; Cif, L.* ; Moro, E.* ; Zeuner, K.E.* ; Zittel, S.* ; Petry-Schmelzer, J.N.* ; Gruber, D.* ; Centen, L.* ; Albanese, A.* ; Ostrozovičová, M.* ; Han, V.* ; Magocova, V.* ; Knorovsky, K.* ; Kollova, A.* ; Garavaglia, B.* ; Golfrè-Andreasi, N.* ; Reale, C.* ; Mazzoni, A.* ; Zorzi, G.* ; Eleopra, R.* ; Levi, V.* ; Foltynie, T.* ; Limousin, P.* ; Akram, H.* ; Zrinzo, L.* ; Magrinelli, F.* ; Murphy, D.* ; Houlden, H.* ; Kurian, M.A.* ; Baiata, C.* ; Paschen, S.A.* ; Lohmann, K.* ; Volkmann, J.* ; Hamel, W.* ; Barbe, M.T.* ; van Egmond, M.E.* ; Tijssen, M.A.* ; Ambro, L.* ; Jurkova, V.* ; Jech, R.* ; Havránková, P.* ; Winkelmann, J. ; Zech, M. ; Škorvánek, M.*

Deep brain stimulation for VPS16-related dystonia: A multicenter study.

Ann. Neurol., DOI: 10.1002/ana.27290 (2025)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
OBJECTIVE: The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16-related dystonia. METHODS: This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT-VPS16 patients with implanted DBS in 10 international centers. Motor symptoms and disability outcomes were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale Motor (BFMDRS-M) and Disability (BFMDRS-D) scales. A cut-off threshold for considering response to DBS was set at 25% of BFMDRS-M improvement at the last follow-up (FU) compared to baseline. RESULTS: The cohort consisted of 26 participants (17 men, 65.4%). Age at dystonia onset and surgery was 17.8 ± 10.9 and 35.3 ± 14.8 years, respectively. At the last FU, 102.5 ± 57.3 months (range, 2-216), the mean BFMDRS-M improvement was 41.6 ± 37.3% (26/26 patients) and 34.8 ± 42.6% for the BFMDRS-D (23/26 patients). Most patients (19/26, 73%) were considered responders. Higher motor improvement was associated with stimulation of the ventroposterior portion of the internal globus pallidus. A significant inverse relationship was observed between improvement in BFMDRS-M at last FU, and the presence of spasticity (p = 0.027) and fixed skeletal deformities (p = 0.001) before surgery. Non-responders had a younger age at disease onset and at implantation, shorter disease duration at DBS surgery, and higher baseline BFMDRS scores. INTERPRETATION: DBS was an effective treatment for three-quarters of patients with pathogenic VPS16 variants in our cohort. Mean motor improvement was most pronounced at the 1-year FU, but persisted at the last FU despite disease progression. ANN NEUROL 2025.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Mutation; Failure
ISSN (print) / ISBN 0364-5134
e-ISSN 1531-8249
Zeitschrift Annals of Neurology
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen European Joint Programme on Rare Diseases, EJP RD Joint Transnational Call 2022
Ministero della Salute
Edmond J. Safra Fellowship in Movement Disorders
Bundesministerium für Bildung und Forschung
Fondazione Pierfranco e Luisa Mariani
David Pearlman Charitable Foundation
Excellence Strategy of the Federal Government and the Länder
Institute for Advanced Study, Technische Universität München